 | Figure 1
Nature Genetics 38, 82 - 85 (2006)
Published online: 4 December 2005; | doi:10.1038/ng1695
Common deletions and SNPs are in linkage disequilibrium in the human genomeDavid A Hinds, Andrew P Kloek, Michael Jen, Xiyin Chen
& Kelly A Frazer | | | | Figure 1. Identification and validation of deletion polymorphisms.
(a) Deletions were detected by a sharp drop in the percentage of conformance in the hybridization data from haploid DNA samples in the Discovery Panel relative to the human reference sequence. Conformance is plotted on the vertical axis versus the position in the human reference sequence on the horizontal axis. Regions of low conformance are shown in yellow and marked with arrows. The data shown span an interval of 1,000 bp. (b) Deletions were confirmed by PCR using diploid genomic DNA from the Discovery Panel. Individuals 1, 11 and 17 are heterozygous for the deletion shown, whereas individuals 7 and 23 are homozygous. (c) PCR results for the same deletion using diploid genomic DNA from the 71 individuals in the Diversity Panel. Sample numbering has been assigned for clarity.
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